Full data view for gene KCNQ1

Information The variants shown are described using the NM_000218.2 transcript reference sequence.

1982 entries on 20 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_1i c.-97652_386+22686del r.0? p.0? Maternal (confirmed) - pathogenic g.[1565895_2489400delins[(126);ins1565903_1565980;ins1561954_1562005inv;ins1863937_2368676inv;ins1566135_1565981]] - - - KCNQ1_000750 complex rearrangement, see Fig.4 for details PubMed: Beygo 2016, Journal: Beygo 2016 - - Germline yes - - - - DNA arraySNP, MLPA-ms, PCR, SEQ-NG - - BWS - PubMed: Beygo 2016, Journal: Beygo 2016 patient III-6 of 3-generation family, at least 3/4 previous pregnancies affected by omphalocoeles F - Serbia white - - - - 1 Jasmin Beygo
-/. 1 c.-5T>C r.(=) p.(=) Unknown - benign g.2466324T>C g.2445094T>C 1-5T>C - KCNQ1_000760 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database PubMed: Jongbloed 2002 - - Germline - 0.10 - - - DNA SEQ - - Healthy/Control 12402336-? PubMed: Jongbloed 2002 data from Inherited Arrhythmias web site - - Netherlands - - - - - 1 Johan den Dunnen
-/. - c.-5T>C r.(?) p.(=) Unknown - benign g.2466324T>C g.2445094T>C KCNQ1(NM_000218.2):c.-5T>C, KCNQ1(NM_000218.3):c.-5T>C - KCNQ1_000760 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5T>C r.(?) p.(=) Unknown - likely benign g.2466324T>C g.2445094T>C KCNQ1(NM_000218.2):c.-5T>C, KCNQ1(NM_000218.3):c.-5T>C - KCNQ1_000760 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5T>C r.(?) p.(=) Unknown - likely benign g.2466324T>C g.2445094T>C KCNQ1(NM_000218.2):c.-5T>C, KCNQ1(NM_000218.3):c.-5T>C - KCNQ1_000760 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.? r.? p.? Unknown - pathogenic g.2549205C>T - S145L - KCNQ1_000000 data from Inherited Arrhythmias web site Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Liu 2006 - - Germline - - - - - DNA SEQ - - LQT1;RWS 16831322-? PubMed: Liu 2006 - - - China - - - - - 1 Johan den Dunnen
+?/+? 1 c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.2466329A>G g.2445099A>G - - KCNQ1_001137 - MORL Deafness Variation Database, PubMed: Moss 2007, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Moss 2007, PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.1A>T r.(?) p.(Met1?) Parent #1 - pathogenic g.2466329A>T g.2445099A>T - - KCNQ1_001138 - MORL Deafness Variation Database, PubMed: Moss 2007, PubMed: Priori 2013, PubMed: Green 2013, PubMed: Wang 2011 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Moss 2007, PubMed: Priori 2013, PubMed: Green 2013, PubMed: Wang 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic g.2466330T>C g.2445100T>C - - KCNQ1_001139 - MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Wang 2011, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Tranebjærg 1993, PubMed: Wang 2011, PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.5C>G r.(?) p.(Ala2Gly) Unknown - VUS g.2466333C>G - KCNQ1(NM_000218.3):c.5C>G (p.A2G) - KCNQ1_001418 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.5C>T r.(?) p.(Ala2Val) Unknown - pathogenic g.2466333C>T g.2445103C>T C5T - KCNQ1_000802 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - - - DNA SEQ - - LQT1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/+ 1 c.5C>T r.(?) p.(Ala2Val) Parent #1 - pathogenic g.2466333C>T g.2445103C>T - - KCNQ1_000802 - MORL Deafness Variation Database, PubMed: Obeyesekere 2012, PubMed: Kapplinger 2009, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Obeyesekere 2012, PubMed: Kapplinger 2009, PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 1 c.8C>G r.(?) p.(Ala3Gly) Parent #1 - VUS g.2466336C>G g.2445106C>G - - KCNQ1_001140 - MORL Deafness Variation Database, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.19C>T r.(?) p.(Pro7Ser) Unknown - pathogenic g.2466347C>T g.2445117C>T C19T - KCNQ1_000803 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - - - DNA SEQ - - LQT1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/+ 1 c.19C>T r.(?) p.(Pro7Ser) Parent #1 - pathogenic g.2466347C>T g.2445117C>T - - KCNQ1_000803 - MORL Deafness Variation Database, PubMed: Johnson 2008, PubMed: Hedley 2009, PubMed: Kapplinger 2009, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Johnson 2008, PubMed: Hedley 2009, PubMed: Kapplinger 2009, PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.37A>T r.(?) p.(Lys13*) Parent #1 - pathogenic g.2466365A>T g.2445135A>T - - KCNQ1_001141 - MORL Deafness Variation Database, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 1 c.40C>T r.(?) p.(Arg14Cys) Parent #1 - likely pathogenic g.2466368C>T g.2445138C>T - - KCNQ1_001142 - MORL Deafness Variation Database, PubMed: Otway 2007 - - SUMMARY record - - - - - DNA ? - - ATFB - PubMed: Otway 2007 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.62C>T r.(?) p.(Pro21Leu) Unknown - VUS g.2466390C>T - - - KCNQ1_001424 - - - rs1589884196 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.64G>C r.(?) p.(Gly22Arg) Parent #1 - VUS g.2466392G>C g.2445162G>C - - KCNQ1_001143 - MORL Deafness Variation Database, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 1 c.81C>A r.(?) p.(Ser27Arg) Parent #1 - VUS g.2466409C>A g.2445179C>A - - KCNQ1_001144 - MORL Deafness Variation Database, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.107dup r.(?) p.(Ser37Leufs*248) Parent #1 - pathogenic g.2466435dup g.2445205dup - - KCNQ1_001145 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Kapplinger 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.108insT r.(?) p.(?) Unknown - pathogenic g.? - 108insT - DRD4_000002 data from Inherited Arrhythmias web site (grammar): Expected W:(acgt...) (at char 17), (line:1, col:18) PubMed: Kapplinger 2009 - - Germline - - - - - DNA SEQ - - LQT1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/. - c.113T>C r.(?) p.(Leu38Pro) Unknown - VUS g.2466441T>C g.2445211T>C KCNQ1(NM_000218.3):c.113T>C (p.L38P) - KCNQ1_001026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.118C>T r.(?) p.(Leu40=) Unknown - benign g.2466446C>T g.2445216C>T KCNQ1(NM_000218.3):c.118C>T (p.L40=) - KCNQ1_001027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.136G>A r.(?) p.(Ala46Thr) Unknown - pathogenic g.2466464G>A g.2445234G>A G136A - KCNQ1_000804 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - - - DNA SEQ - - LQT1;RWS 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/. - c.136G>A r.(?) p.(Ala46Thr) Unknown - VUS g.2466464G>A g.2445234G>A KCNQ1(NM_000218.2):c.136G>A (p.(Ala46Thr)) - KCNQ1_000804 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136G>A r.(?) p.(Ala46Thr) Unknown ACMG VUS g.2466464G>A g.2445234G>A - - KCNQ1_000804 ACMG: PM2,PP2 - - rs199473671 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/+ 1 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.2466464G>A g.2445234G>A - - KCNQ1_000804 - MORL Deafness Variation Database, PubMed: Chung 2007, PubMed: Yang 2009, PubMed: Kapplinger 2009, PubMed: Napolitano 2005, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Chung 2007, PubMed: Yang 2009, PubMed: Kapplinger 2009, PubMed: Napolitano 2005, PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.136G>A r.(?) p.(Ala46Thr) Parent #1 - VUS g.2466464G>A g.2445234G>A - - KCNQ1_000804 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199473671 Germline - 1/2784 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.136G>A r.(?) p.(Ala46Thr) Unknown - VUS g.2466464G>A - KCNQ1(NM_000218.2):c.136G>A (p.(Ala46Thr)) - KCNQ1_000804 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.151dup r.(?) p.(Tyr51Leufs*234) Unknown - pathogenic g.2466479dup g.2445249dup 151_152insT - KCNQ1_000805 data from Inherited Arrhythmias web site (variantchecker): Insertion of T at position 259_260 was given, however, the HGVS notation prescribes that it should be a duplication of T at position 259_259. PubMed: Napolitano 2005 - - Germline - - - - - DNA SEQ - - LQT1;RWS 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/+ 1 c.151dup r.(?) p.(Tyr51Leufs*234) Parent #1 - pathogenic g.2466479dup g.2445249dup - - KCNQ1_001146 - MORL Deafness Variation Database, PubMed: Napolitano 2005 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Napolitano 2005 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.151dupT r.(?) p.(Tyr51LeufsTer234) Unknown - pathogenic g.2466479dup g.2445249dup - - KCNQ1_000805 variant definitively linked to disease Fusco 2042, submitted RCV000577438 rs397508094 Germline - - - - - DNA SEQ-NG blood - CM Fam252Pat268 Fusco 2042, submitted - F - Italy white - - - - 1 Carmela Fusco
+/+ 1 c.152A>G r.(?) p.(Tyr51Cys) Parent #1 - pathogenic g.2466480A>G g.2445250A>G - - KCNQ1_001147 - MORL Deafness Variation Database, PubMed: Wang 2014 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Wang 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.153C>G r.(?) p.(Tyr51*) Unknown - pathogenic g.2466481C>G g.2445251C>G C153G - KCNQ1_000806 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - - - DNA SEQ - - LQT1;RWS 15840476-? PubMed: Tester 2005 - - - United States - - - - - 1 Johan den Dunnen
+/+ 1 c.153C>G r.(?) p.(Tyr51*) Parent #1 - pathogenic g.2466481C>G g.2445251C>G - - KCNQ1_000806 - MORL Deafness Variation Database, PubMed: Kapa 2009, PubMed: Green 2013, PubMed: Tester 2005 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Kapa 2009, PubMed: Green 2013, PubMed: Tester 2005 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. 1 c.160_168dup r.(?) p.(Ile54_Pro56dup) Unknown - benign g.2466488_2466496dup g.2445258_2445266dup 160_168dup - KCNQ1_000801 data from Inherited Arrhythmias web site PubMed: Ackerman 2003 - - Germline - - - - - DNA SEQ - - Healthy/Control 14661677-? PubMed: Ackerman 2003 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
-/. 1 c.160_168dup r.(?) p.(Ile54_Pro56dup) Unknown - benign g.2466488_2466496dup g.2445258_2445266dup 160_168dup - KCNQ1_000801 data from Inherited Arrhythmias web site PubMed: Abraham 2010 - - Germline - - - - - DNA SEQ - - Healthy/Control 19646991-? PubMed: Abraham 2010 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
-/- 1 c.160_168dup r.(?) p.(Ile54_Pro56dup) Unknown - benign g.2466488_2466496dup g.2445258_2445266dup dup160-168 - KCNQ1_000801 - PubMed: Ackerman 2003 - - Germline - 4/305 controls - - - DNA SEQ - - - 14661677-con PubMed: Ackerman 2003 305 African American controls - - United States African Americans - - - - 4 Johan den Dunnen
-?/. - c.160_168dup r.(?) p.(Ile54_Pro56dup) Unknown - likely benign g.2466488_2466496dup g.2445258_2445266dup KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16... - KCNQ1_000801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160_168dup r.(?) p.(Ile54_Pro56dup) Unknown - likely benign g.2466488_2466496dup g.2445258_2445266dup KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16... - KCNQ1_000801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.160_168dup r.(?) p.(Ile54_Pro56dup) Unknown - benign g.2466488_2466496dup g.2445258_2445266dup KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16... - KCNQ1_000801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160_168dup r.(?) p.(Ile54_Pro56dup) Unknown - likely benign g.2466488_2466496dup g.2445258_2445266dup KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16... - KCNQ1_000801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.160_168dup r.(?) p.(Ile54_Pro56dup) Unknown ACMG benign g.2466481dup - - - KCNQ1_000801 ACMG: BS1,BS2 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - rs561562768 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
-?/. - c.160_168dup r.(?) p.(Ile54_Pro56dup) Unknown - likely benign g.2466488_2466496dup - KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16... - KCNQ1_000801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160_168dup r.(?) p.(Ile54_Pro56dup) Unknown - likely benign g.2466488_2466496dup - KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16... - KCNQ1_000801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.170G>T r.(?) p.(Gly57Val) Parent #1 - likely pathogenic g.2466498G>T g.2445268G>T - - KCNQ1_001148 - MORL Deafness Variation Database, PubMed: Moss 2007, PubMed: Green 2013, PubMed: Costa 2012 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Moss 2007, PubMed: Green 2013, PubMed: Costa 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.172G>C r.(?) p.(Ala58Pro) Parent #1 - pathogenic g.2466500G>C g.2445270G>C - - KCNQ1_001149 - MORL Deafness Variation Database, PubMed: Crotti 2012 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Crotti 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.176del r.(?) p.(Pro59Glnfs*27) Unknown - pathogenic g.2466504del g.2445274del 176delC - KCNQ1_000807 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - - - DNA SEQ - - LQT1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/+ 1 c.176del r.(?) p.(Pro59Glnfs*27) Parent #1 - pathogenic g.2466504del g.2445274del - - KCNQ1_001150 - MORL Deafness Variation Database, PubMed: Kapplinger 2009 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Kapplinger 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 1 c.184G>A r.(?) p.(Ala62Thr) Parent #1 - VUS g.2466512G>A g.2445282G>A - - KCNQ1_001151 - MORL Deafness Variation Database, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.190_210del r.(?) p.(Pro64_Pro70del) Unknown - pathogenic g.2466518_2466538del g.2445288_2445308del 190_210delCCTGCGTCCCCGGCCGCGCCC - KCNQ1_000761 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - - - DNA SEQ - - LQT1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
-?/. - c.194C>T r.(?) p.(Ala65Val) Unknown - likely benign g.2466522C>T g.2445292C>T KCNQ1(NM_000218.2):c.194C>T (p.A65V) - KCNQ1_001029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.197C>T r.(?) p.(Ser66Phe) Unknown - pathogenic g.2466525C>T g.2445295C>T C197T - KCNQ1_000808 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - - - DNA SEQ - - LQT1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/+ 1 c.197C>T r.(?) p.(Ser66Phe) Parent #1 - pathogenic g.2466525C>T g.2445295C>T - - KCNQ1_000808 - MORL Deafness Variation Database, PubMed: Kapplinger 2009, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Kapplinger 2009, PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.200_210del r.(?) p.(Pro67Argfs*214) Unknown - pathogenic g.2466528_2466538del g.2445298_2445308del 200_210delCGGCCGCGCCC - KCNQ1_000762 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - - - DNA SEQ - - LQT1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
-/. - c.207G>T r.(?) p.(Ala69=) Unknown - benign g.2466535G>T g.2445305G>T KCNQ1(NM_000218.2):c.207G>T (p.A69=), KCNQ1(NM_000218.3):c.207G>T (p.A69=) - KCNQ1_001030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207G>T r.(?) p.(Ala69=) Unknown - benign g.2466535G>T g.2445305G>T KCNQ1(NM_000218.2):c.207G>T (p.A69=), KCNQ1(NM_000218.3):c.207G>T (p.A69=) - KCNQ1_001030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207G>T r.(?) p.(Ala69=) Unknown - likely benign g.2466535G>T g.2445305G>T KCNQ1(NM_000218.2):c.207G>T (p.A69=), KCNQ1(NM_000218.3):c.207G>T (p.A69=) - KCNQ1_001030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207G>T r.(?) p.(Ala69=) Unknown - likely benign g.2466535G>T g.2445305G>T KCNQ1(NM_000218.2):c.207G>T (p.A69=), KCNQ1(NM_000218.3):c.207G>T (p.A69=) - KCNQ1_001030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.208C>A r.(?) p.(Pro70Thr) Parent #1 - VUS g.2466536C>A g.2445306C>A - - KCNQ1_001152 - MORL Deafness Variation Database, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.211_219del r.(?) p.(Ala71_Pro73del) Unknown - pathogenic g.2466539_2466547del g.2445309_2445317del 211_219del - KCNQ1_000774 data from Inherited Arrhythmias web site PubMed: Ackerman 1999 - - Germline - - - - - DNA SEQ - - LQT1;RWS 10560595-? PubMed: Ackerman 1999 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 1 c.211_219del r.(?) p.(Ala71_Pro73del) Unknown - pathogenic g.2466539_2466547del g.2445309_2445317del del 211–219 - KCNQ1_000774 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - - - DNA SEQ - - LQT1;RWS 15840476-? PubMed: Tester 2005 - - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.211_219del r.(?) p.(Ala71_Pro73del) Unknown - pathogenic g.2466539_2466547del g.2445309_2445317del AAPdel71–73 - KCNQ1_000774 data from Inherited Arrhythmias web site PubMed: Choi 2004 - - Germline - - - - - DNA SEQ - - LQT1;RWS 15466642-Pat1 PubMed: Choi 2004 data from Inherited Arrhythmias web site F - United States - - - - - 1 Johan den Dunnen
-?/. - c.211_219del r.(?) p.(Ala71_Pro73del) Unknown - likely benign g.2466539_2466547del g.2445309_2445317del - - KCNQ1_000774 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.211_219del r.(?) p.(Ala71_Pro73del) Parent #1 - pathogenic g.2466539_2466547del g.2445309_2445317del - - KCNQ1_000774 - MORL Deafness Variation Database, PubMed: ACMG Board of Directors. 2015, PubMed: Alders 1993, PubMed: Green 2013, PubMed: Ackerman 1999 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: ACMG Board of Directors. 2015, PubMed: Alders 1993, PubMed: Green 2013, PubMed: Ackerman 1999 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 1 c.211_219dup r.(?) p.(Ala71_Pro73dup) Parent #1 - VUS g.2466539_2466547dup g.2445309_2445317dup - - KCNQ1_001153 - MORL Deafness Variation Database, PubMed: Kapa 2009, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Kapa 2009, PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 1 c.217C>A r.(?) p.(Pro73Thr) Maternal (confirmed) - VUS g.2466545C>A g.2445315C>A - - KCNQ1_000239 - PubMed: Riuro 2014 - - Germline - - - - - DNA SEQ - - LQT1;RWS - PubMed: Riuro 2014 - - - - - - - - - 1 Anna Iglesias
+/. 1 c.217C>A r.(?) p.(Pro73Thr) Unknown - pathogenic g.2466545C>A g.2445315C>A C217A - KCNQ1_000239 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - - - DNA SEQ - - LQT1;RWS 15840476-? PubMed: Tester 2005 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.217C>A r.(?) p.(Pro73Thr) Unknown - VUS g.2466545C>A g.2445315C>A KCNQ1(NM_000218.2):c.217C>A (p.P73T), KCNQ1(NM_000218.3):c.217C>A (p.P73T) - KCNQ1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.217C>A r.(?) p.(Pro73Thr) Unknown - VUS g.2466545C>A g.2445315C>A KCNQ1(NM_000218.2):c.217C>A (p.P73T), KCNQ1(NM_000218.3):c.217C>A (p.P73T) - KCNQ1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.217C>A r.(?) p.(Pro73Thr) Unknown ACMG VUS g.2466545C>A g.2445315C>A - - KCNQ1_000239 - - - rs199472676 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/+ 1 c.217C>A r.(?) p.(Pro73Thr) Parent #1 - pathogenic g.2466545C>A g.2445315C>A - - KCNQ1_000239 - MORL Deafness Variation Database, PubMed: Tester 2005, PubMed: Kapa 2009, PubMed: Kapplinger 2009, PubMed: Green 2013, PubMed: Giudicessi 2012 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Tester 2005, PubMed: Kapa 2009, PubMed: Kapplinger 2009, PubMed: Green 2013, PubMed: Giudicessi 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.217C>A r.(?) p.(Pro73Thr) Unknown - VUS g.2466545C>A - KCNQ1(NM_000218.2):c.217C>A (p.P73T), KCNQ1(NM_000218.3):c.217C>A (p.P73T) - KCNQ1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.220_221del r.(?) p.(Pro74Serfs*210) Parent #1 - pathogenic g.2466548_2466549del g.2445318_2445319del 220_221delCC - KCNQ1_000746 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam242 2-generation family, 1M, 2F - - Germany - - - - - 3 Hideki Itoh
-?/-? 1 c.225T>C r.(=) p.(=) Parent #1 - likely benign g.2466553T>C g.2445323T>C - - KCNQ1_001154 - MORL Deafness Variation Database, PubMed: Duzkale 2013, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013, PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.225T>C r.(?) p.(Val75=) Unknown - likely benign g.2466553T>C - KCNQ1(NM_000218.2):c.225T>C (p.V75=), KCNQ1(NM_000218.3):c.225T>C (p.V75=) - KCNQ1_001154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225T>C r.(?) p.(Val75=) Unknown - likely benign g.2466553T>C - KCNQ1(NM_000218.2):c.225T>C (p.V75=), KCNQ1(NM_000218.3):c.225T>C (p.V75=) - KCNQ1_001154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.242C>T r.(?) p.(Pro81Leu) Parent #1 - VUS g.2466570C>T g.2445340C>T - - KCNQ1_001155 - MORL Deafness Variation Database, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.242_264delinsGCGCCCGCGG r.(?) p.(Pro81Argfs*152) Unknown - pathogenic g.2466570_2466592delinsGCGCCCGCGG g.2445340_2445362delinsGCGCCCGCGG 242_264delCGCGGCCGCCGGTGAGCCTAGACinsGCGCCCGCGG - KCNQ1_000763 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - - - DNA SEQ - - LQT1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/? 1 c.251C>G r.(?) p.(Pro84Arg) Parent #1 - VUS g.2466579C>G g.2445349C>G - - KCNQ1_001156 - MORL Deafness Variation Database, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.270del r.(?) p.(Val91Serfs*146) Unknown ACMG likely pathogenic g.2466598del g.2445368del - - KCNQ1_001110 ACMG grading: PM2,PVS1 - - - Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+/. - c.270del r.(?) p.(Val91Serfs*146) Unknown - pathogenic g.2466598del - KCNQ1(NM_000218.3):c.270delC (p.V91Sfs*146) - KCNQ1_001110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.273_299delinsTG r.(?) p.(Ser92Glyfs*137) Unknown - pathogenic g.2466601_2466627delinsTG g.2445371_2445397delinsTG 273_299delCTCCATCTACAGCACGCGCCGCCCGGTinsGG - KCNQ1_000764 data from Inherited Arrhythmias web site PubMed: Kapplinger 2009 - - Germline - - - - - DNA SEQ - - LQT1;RWS 19716085-? PubMed: Kapplinger 2009 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/+ 1 c.287C>G r.(?) p.(Thr96Arg) Parent #1 - pathogenic g.2466615C>G g.2445385C>G - - KCNQ1_001157 - MORL Deafness Variation Database, PubMed: Skinner 2011 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Skinner 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.287C>G r.(?) p.(Thr96Arg) Unknown - VUS g.2466615C>G - KCNQ1(NM_000218.2):c.287C>G (p.T96R) - KCNQ1_001157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.287del r.(?) p.(Thr96Serfs*141) Unknown - pathogenic g.2466615del g.2445385del delC287 - KCNQ1_000809 - PubMed: Tester 2005 - - Germline - 1/541 cases LQT - - - DNA SEQ - - LQT 15840528-Pat PubMed: Tester 2005 541 LQT cases - - United States - - - - - 1 Johan den Dunnen
?/. - c.292C>A r.(?) p.(Arg98Ser) Unknown - VUS g.2466620C>A - KCNQ1(NM_000218.2):c.292C>A (p.(Arg98Ser)) - KCNQ1_001397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.296C>G r.(?) p.(Pro99Arg) Parent #1 - pathogenic g.2466624C>G g.2445394C>G - - KCNQ1_001158 - MORL Deafness Variation Database, PubMed: Wang 2014 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Wang 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.298del r.(?) p.(Val100Cysfs*137) Parent #1 - pathogenic g.2466626del g.2445396del 298delG - KCNQ1_000745 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - Fam1079 3-generation family, 2M, 1F - - Germany - - - - - 3 Hideki Itoh
+/+ 1 c.310_329dup r.(?) p.(Tyr111Profs*133) Parent #1 - pathogenic g.2466638_2466657dup g.2445408_2445427dup - - KCNQ1_001159 - MORL Deafness Variation Database, PubMed: Cuneo 2013 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Cuneo 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 1 c.314A>T r.(?) p.(His105Leu) Parent #1 - likely pathogenic g.2466642A>T g.2445412A>T - - KCNQ1_001160 - MORL Deafness Variation Database, PubMed: Wedekind 2006, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Wedekind 2006, PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.319C>T r.(?) p.(Gln107*) Parent #1 - pathogenic g.2466647C>T g.2445417C>T - - KCNQ1_001161 - MORL Deafness Variation Database, PubMed: Crotti 2012 - - SUMMARY record - - - - - DNA ? - - LQT - PubMed: Crotti 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 1 c.321G>T r.(?) p.(Gln107His) Parent #1 - likely pathogenic g.2466649G>T g.2445419G>T - - KCNQ1_001162 - MORL Deafness Variation Database, PubMed: Green 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Green 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. 1 c.328A>G r.(?) p.(?) Unknown - benign g.2466656A>G - A328G - KCNQ1_000810 data from Inherited Arrhythmias web site (variantchecker): A not found at position 436, found G instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Ackerman 2003 - - Germline - - - - - DNA SEQ - - Healthy/Control 14661677-? PubMed: Ackerman 2003 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. - c.328G>A r.(?) p.(Val110Ile) Unknown - pathogenic g.2466656G>A g.2445426G>A - - KCNQ1_000756 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 5 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M ? Sweden - - - - - 1 Ellika Sahlin
+/. - c.328G>A r.(?) p.(Val110Ile) Unknown - pathogenic g.2466656G>A g.2445426G>A - - KCNQ1_000756 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 228 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - - - - - 1 Ellika Sahlin
-/- 1 c.328G>A r.(?) p.(Val110Ile) Unknown - benign g.2466656G>A g.2445426G>A - - KCNQ1_000756 - PubMed: Ackerman 2003 - - Germline - 1/187 controls - - - DNA SEQ - - - 14661710-con PubMed: Ackerman 2003 187 Caucasian controls - - United States European, white - - - - 1 Johan den Dunnen
?/. - c.328G>A r.(?) p.(Val110Ile) Unknown - VUS g.2466656G>A - KCNQ1(NM_000218.2):c.328G>A (p.V110I) - KCNQ1_000756 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.332A>G r.(?) p.(Tyr111Cys) Parent #1 - pathogenic g.2466660A>G g.2445430A>G - - KCNQ1_000654 - - - - Germline - - - - - DNA SEQ leukocyte - LQT1;RWS - B1334 2-generation family, 0M, 2F - - France - - - - - 2 Hideki Itoh
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